legally blind. 3 Nystagmus and abnormal smooth pursuit were also common. As in our case, a subset of patients exhibited cortico-spinal tract signs. The diagnosis of Boucher-Neuhauser syndrome is potentially challenging as there is considerable variability in clinical presentation. Fundus abnormalities may be subtle with relatively preserved central acuity, 4 or more there may be extensive chorioretinal atrophy with severe central vision loss. 5 In the more frequent cases where vision is significantly compromised, decreased central acuity is accompanied by abnormal colour vision and ring scotomas on visual field testing. Electroretinogram typically shows decreases in both photopic and scotopic responses. 5,6 Anterior segment examination is characteristically unremarkable. In this case, early nyctalopia and peripheral field loss was suggestive of RP; however, the fundus did not show peripheral pigment clumping/bone spicule pigmentation, waxy disc pallor, or marked retinal vessel attenuation, and posterior subcapsular cataract, also commonly seen in RP, was not present. The associated findings of cerebellar ataxia, spasticity, and delayed puberty pointed to the correct diagnosis.
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